Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile
Author
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Cifuentes Ovalle, Lucía
Author
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Arancibia, Margarita
es_CL
Author
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Torrente Avendaño, Mariela
es_CL
Author
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Acuña, Mónica
es_CL
Author
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Farfán Reyes, Corina
es_CL
Author
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Ríos, Carolina
es_CL
Admission date
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2014-03-10T12:29:20Z
Available date
dc.date.available
2014-03-10T12:29:20Z
Publication date
dc.date.issued
2013
Cita de ítem
dc.identifier.citation
Biol Res 46: 239-242, 2013
en_US
Identifier
dc.identifier.uri
https://repositorio.uchile.cl/handle/2250/129298
General note
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Artículo de publicación ISI
en_US
Abstract
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Hearing loss is the most common inherited sensorial defi ciency in humans; about 1 in 1000 children suff er from severe or profound hearing
loss at birth. Mutations in the GJB2 gene are the most common cause of prelingual, non-syndromic autosomal recessive deafness in many
populations; the c.35delG mutation is the most common in Caucasian populations. The frequency of the c.35delG mutation was estimated
in two samples of deaf patients from Santiago, Chile. Unrelated non-syndromic sensorioneural deaf patients were examined: Group 1
consisted of 47 unrelated individuals with neurosensory deafness referred to the Chilean Cochlear Implant Program; Group 2 included 66
school children with prelingual deafness attending special education institutions for deaf people. Individuals with profound to moderate
isolated neurosensory hearing loss with unknown etiology were included. The presence of the c.35delG mutation was evaluated by the
allele-specifi c polymerase chain reaction method (PCR), and in some cases it was confi rmed by direct DNA sequencing of the coding region
of the GJB2 gene. Deaf relatives were present in 20.3% of the cases. We found 19.5% (22/113) patients with the c.35delG mutation, 6 of them
homozygous; these rates are similar to frequencies found in other Latin American countries.